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Wyświetlanie 1-20 z 188
Tytuł:
Novel Variants of SOX4 in Patients with Intellectual Disability.
Autorzy:
Grosse M; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, 47057 Duisburg, Germany.
Kuechler A; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, 47057 Duisburg, Germany.
Dabir T; Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast BT9 7AB, UK.
Spranger S; Limbach Genetics, 28209 Bremen, Germany.
Beck-Wödl S; Medical Genetics and Applied Genomics, University of Tuebingen, 72076 Tuebingen, Germany.
Bertrand M; Medical Genetics and Applied Genomics, University of Tuebingen, 72076 Tuebingen, Germany.
Haack TB; Medical Genetics and Applied Genomics, University of Tuebingen, 72076 Tuebingen, Germany.
Grasemann C; Department of Pediatrics, Faculty of Medicine, Ruhr University of Bochum, 44791 Bochum, Germany.
Manka E; Center for Rare Disease Essen (Essener Zentrum für Seltene Erkrankungen-EZSE), Universitätsmedizin Essen, 45147 Essen, Germany.
Depienne C; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, 47057 Duisburg, Germany.
Kaiser FJ; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, 47057 Duisburg, Germany.; Center for Rare Disease Essen (Essener Zentrum für Seltene Erkrankungen-EZSE), Universitätsmedizin Essen, 45147 Essen, Germany.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Feb 09; Vol. 24 (4). Date of Electronic Publication: 2023 Feb 09.
Typ publikacji:
Journal Article
MeSH Terms:
Abnormalities, Multiple*
Intellectual Disability*/genetics
SOXC Transcription Factors*/genetics
Humans ; Gene Expression Regulation ; Micrognathism/genetics ; Transcription Factors/metabolism
SCR Disease Name:
Coffin-Siris syndrome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Angiokeratoma corporis diffusum with severe acroparesthesia, an endothelial abnormality, and inconspicuous genetic findings.
Autorzy:
Harzer K; Department of Neuropediatrics, University Children's Hospital, Tübingen, Germany.
Beck-Wödl S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
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Źródło:
Journal of cutaneous pathology [J Cutan Pathol] 2022 Mar; Vol. 49 (3), pp. 293-298. Date of Electronic Publication: 2021 Nov 07.
Typ publikacji:
Case Reports
MeSH Terms:
Basement Membrane/*abnormalities
Endothelial Cells/*ultrastructure
Fabry Disease/*complications
Paresthesia/*etiology
Aged, 80 and over ; Fabry Disease/genetics ; Female ; Humans ; Exome Sequencing ; alpha-Galactosidase/genetics
Raport
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Identification and Characterization of a Novel Splice Site Mutation Associated with Glycogen Storage Disease Type VI in Two Unrelated Turkish Families.
Autorzy:
Grünert SC; Department of General Paediatrics, Adolescent Medicine and Neonatology, Faculty of Medicine, Medical Centre University of Freiburg, 79106 Freiburg, Germany.
Hannibal L; Laboratory of Clinical Biochemistry and Metabolism, Department of General Paediatrics, Adolescent Medicine and Neonatology, Faculty of Medicine, Medical Centre-University of Freiburg, 79106 Freiburg, Germany.
Schumann A; Department of General Paediatrics, Adolescent Medicine and Neonatology, Faculty of Medicine, Medical Centre University of Freiburg, 79106 Freiburg, Germany.
Rosenbaum-Fabian S; Department of General Paediatrics, Adolescent Medicine and Neonatology, Faculty of Medicine, Medical Centre University of Freiburg, 79106 Freiburg, Germany.
Beck-Wödl S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.
Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.; Center for Rare Diseases, University of Tübingen, 72076 Tübingen, Germany.
Grimmel M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.
Bertrand M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.
Spiekerkoetter U; Department of General Paediatrics, Adolescent Medicine and Neonatology, Faculty of Medicine, Medical Centre University of Freiburg, 79106 Freiburg, Germany.
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Źródło:
Diagnostics (Basel, Switzerland) [Diagnostics (Basel)] 2021 Mar 12; Vol. 11 (3). Date of Electronic Publication: 2021 Mar 12.
Typ publikacji:
Case Reports
Raport
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
The adult phenotype of Schaaf-Yang syndrome.
Autorzy:
Marbach F; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
Elgizouli M; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.
Rech M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Beygo J; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.
Erger F; Faculty of Medicine, University of Cologne, 50931, Cologne, Germany.; Institute of Human Genetics, University Hospital Cologne, Cologne, Germany.
Velmans C; Faculty of Medicine, University of Cologne, 50931, Cologne, Germany.; Institute of Human Genetics, University Hospital Cologne, Cologne, Germany.
Stumpel CTRM; Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, 6202AZ, Maastricht, The Netherlands.
Stegmann APA; Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, 6202AZ, Maastricht, The Netherlands.
Beck-Wödl S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Gillessen-Kaesbach G; Institute of Human Genetics, University of Lübeck, Lübeck, Germany.
Horsthemke B; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.
Schaaf CP; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Kuechler A; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany. .
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2020 Oct 19; Vol. 15 (1), pp. 294. Date of Electronic Publication: 2020 Oct 19.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Arthrogryposis*
Intellectual Disability*/genetics
Prader-Willi Syndrome*/genetics
Adult ; Humans ; Phenotype ; Proteins/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Natural history of Krabbe disease - a nationwide study in Germany using clinical and MRI data.
Autorzy:
Krieg SI; Department of Child Neurology, Children's Hospital, University of Tübingen, Hoppe-Seyler-Str. 1, 72072, Tübingen, Germany.
Krägeloh-Mann I; Department of Child Neurology, Children's Hospital, University of Tübingen, Hoppe-Seyler-Str. 1, 72072, Tübingen, Germany. .
Groeschel S; Department of Child Neurology, Children's Hospital, University of Tübingen, Hoppe-Seyler-Str. 1, 72072, Tübingen, Germany.; Section for Experimental MR of the CNS, Department of Child Neurology and Neuroradiology, University of Tübingen, Tübingen, Germany.
Beck-Wödl S; Department of Medical Genetics, University Hospital Tübingen, Tübingen, Germany.
Husain RA; Department of Neuropediatrics, Jena University Hospital, Jena, Germany.
Schöls L; Clinical Neurogenetics Section, Department of Neurology, University of Tübingen, Tübingen, Germany.
Kehrer C; Department of Child Neurology, Children's Hospital, University of Tübingen, Hoppe-Seyler-Str. 1, 72072, Tübingen, Germany.
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2020 Sep 10; Vol. 15 (1), pp. 243. Date of Electronic Publication: 2020 Sep 10.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Leukodystrophy, Globoid Cell*/diagnostic imaging
Adult ; Cerebellum/metabolism ; Galactosylceramidase/metabolism ; Germany ; Humans ; Magnetic Resonance Imaging
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Hepatomegaly and Splenomegaly: An Approach to the Diagnosis of Lysosomal Storage Diseases.
Autorzy:
Jerves Serrano, Teodoro (AUTHOR)
Gold, Jessica (AUTHOR)
Cooper, James A. (AUTHOR)
Church, Heather J. (AUTHOR)
Tylee, Karen L. (AUTHOR)
Wu, Hoi Yee (AUTHOR)
Kim, Sun Young (AUTHOR)
Stepien, Karolina M. (AUTHOR)
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Źródło:
Journal of Clinical Medicine. Mar2024, Vol. 13 Issue 5, p1465. 19p.
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
The burden of disease in metachromatic leukodystrophy: results of a caregiver survey in the UK and Republic of Ireland.
Autorzy:
Thomas, Sophie (AUTHOR)
Morrison, Alexandra (AUTHOR)
Morton, Georgina (AUTHOR)
Roberts, Pat (AUTHOR)
Clark, Vivienne (AUTHOR)
Imrie, Jackie (AUTHOR)
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Źródło:
Orphanet Journal of Rare Diseases. 2/25/2024, Vol. 19 Issue 1, p1-9. 9p.
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Phenotypic variation between siblings with Metachromatic Leukodystrophy.
Autorzy:
Elgün S; Department of Paediatric Neurology and Developmental Medicine, University Children's Hospital Tübingen, Hoppe-Seyler-Strasse 1, 72076, Tübingen, Germany.
Waibel J; Department of Paediatric Neurology and Developmental Medicine, University Children's Hospital Tübingen, Hoppe-Seyler-Strasse 1, 72076, Tübingen, Germany.
Kehrer C; Department of Paediatric Neurology and Developmental Medicine, University Children's Hospital Tübingen, Hoppe-Seyler-Strasse 1, 72076, Tübingen, Germany.
van Rappard D; Department of Child Neurology, Emma Children's Hospital, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam, and Amsterdam Neuroscience, Amsterdam, The Netherlands.
Böhringer J; Department of Paediatric Neurology and Developmental Medicine, University Children's Hospital Tübingen, Hoppe-Seyler-Strasse 1, 72076, Tübingen, Germany.
Beck-Wödl S; Department of Medical Genetics, University Hospital Tübingen, Tübingen, Germany.
Just J; Clinical Neurogenetics Section, Department of Neurology and Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
Schöls L; Clinical Neurogenetics Section, Department of Neurology and Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE) Tübingen, Tübingen, Germany.
Wolf N; Department of Child Neurology, Emma Children's Hospital, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam, and Amsterdam Neuroscience, Amsterdam, The Netherlands.
Krägeloh-Mann I; Department of Paediatric Neurology and Developmental Medicine, University Children's Hospital Tübingen, Hoppe-Seyler-Strasse 1, 72076, Tübingen, Germany.
Groeschel S; Department of Paediatric Neurology and Developmental Medicine, University Children's Hospital Tübingen, Hoppe-Seyler-Strasse 1, 72076, Tübingen, Germany. .
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2019 Jun 11; Vol. 14 (1), pp. 136. Date of Electronic Publication: 2019 Jun 11.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Leukodystrophy, Metachromatic/*diagnostic imaging
Leukodystrophy, Metachromatic/*genetics
Cognition/physiology ; Genetic Association Studies ; Genotype ; Humans ; Magnetic Resonance Spectroscopy ; Siblings
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Wyświetlanie 1-20 z 188

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